Case Presentation:
A 53‐year‐old man presented with new‐onset pedal edema and memory loss of 1 month's duration. He also complained of a 1‐year history of generalized weakness, joint pains, neck stiffness, watery diarrhea, and significant weight loss He denied fever, chills, abdominal pain, nausea, vomiting, hematemesis, or hematochezia. He appeared lethargic and pale and had slow response to commands. Labs revealed pancytopenia with severe hypoalbuminemia. HIV/hepatitis panels, TSH. serum cortisol, and antigliadin antibodies were negative. Upper Gl endoscopy and duodenal biopsy with PAS stain revealed widening and blunting of villi with foamy macrophages. A bone marrow biopsy was done, which confirmed Whipple's disease by periodic acid‐Schiff (PAS) stain and PCR testing. Pancytopenia was attributed to the bone marrow involvement. Transesophageal echocardiogram ruled out vegetations; a brain MRI and CSF analysis were normal. The patient was treated with IV ceftriaxone and oral trimethoprimsulfamethoxazole. His condition significantly improved on follow‐up examination.
Discussion:
Whipple's disease is a multisystem disease that primarily affects the gastrointestinal tract. Extraintestinal manifestations include arthralgia, weight loss, lymphadenopathy, ascites, fever, splenomegaly, glossitis, and nervous system involvement including dementia, ataxia, and myoclonus. There seems to be a positive association between HLA B27 and Whipple's disease. Bone marrow involvement in Whipple's disease is a common but often overlooked area. This could lead to anemia, thrombocytopenia, and leukopenia. Bone marrow biopsy in such patients shows hypercellularity with the presence of histiocytes containing diastase‐resistant bacilli that stain with periodic acid‐Schiff stain. Tetracycline may be used for Whipple's disease restricted to the gastrointestinal tract. Extraintestinal Whipple's is treated with initial parenteral therapy with penicillin and streptomycin for 2 weeks, followed by trimethoprimsulfamethoxazole for 1 year. This regimen assures adequate CNS penetration and prevention of CNS relapses.
Conclusions:
Whipple's disease is a well‐described disease but rarely considered clinically because it is relatively rare. Involvement of bone marrow may be an overlooked area of Whipple's disease. Despite minimal documentation, bone marrow may be commonly involved in Whipple's disease, and although not specific, diastase‐resistant PAS‐positive macrophages in bone marrow may offer an important clue to diagnosis. It is extremely important to consider this diagnosis in a patient presenting with multisystem involvement, as it can be completely cured with antibiotic therapy.
Author Disclosure:
M. Krishnamurthy, none; S. Shukla, none; J. Krishnakurup, none; H. Salib, none.